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A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification [PDF]
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi +13 more
doaj +2 more sources
Salmonella enteritidis acquires phage resistance through a point mutation in rfbD but loses some of its environmental adaptability [PDF]
Phage therapy holds promise as an alternative to antibiotics for combating multidrug-resistant bacteria. However, host bacteria can quickly produce progeny that are resistant to phage infection.
Yukun Zeng +5 more
doaj +2 more sources
Mutation-driven parallel evolution in emergence of ACE2-utilizing sarbecoviruses
Mutation and recombination are two major genetic mechanisms that drive the evolution of viruses. They both exert an interplay during virus evolution, in which mutations provide a first ancestral source of genetic diversity for subsequent recombination ...
Bin Gao, Shunyi Zhu
doaj +1 more source
Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori
Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to investigate the role of different point ...
Sang Yoon Kim +7 more
doaj +1 more source
Base Editing in Peanut Using CRISPR/nCas9
Peanut (Arachis hypogaea L.), an allotetraploid legume of the Fabaceae family, is able to thrive in tropical and subtropical regions and is considered as a promising oil seed crop worldwide.
Anjanasree K. Neelakandan +5 more
doaj +1 more source
The CS21 pilus produced by enterotoxigenic Escherichia coli (ETEC) is involved in adherence to HT-29 intestinal cells. The CS21 pilus assembles proteins encoded by 14 genes clustered into the lng operon. Aim. This study aimed to determine whether E. coli
Karina Espinosa-Mazariego +9 more
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Significance CLL is characterized by autonomous B cell receptor (BCR) signaling. CLL subsets are empirically defined by sequence similarities of the BCR heavy chain.
P. Maity +38 more
semanticscholar +1 more source
The two-spotted spider mite Tetranychus urticae is a difficult-to-control pest due to its short life cycle and rapid resistance development. In this study, we characterized field strains collected in 2001 and 2003 that were selected for acequinocyl ...
Jihye Choi +5 more
doaj +1 more source
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated with
Sara Fañanas-Baquero +16 more
doaj +1 more source
Elastin genetic point mutation and the risk of pelvic organ prolapse
Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors ...
N. Haya +5 more
doaj +1 more source

